Department of Pediatrics, University of Colorado, Aurora, CO, USA.
ICON Clinical Research, San Francisco, CA, USA.
J Cyst Fibros. 2018 Jul;17(4):503-510. doi: 10.1016/j.jcf.2017.10.003. Epub 2017 Oct 31.
Patients with cystic fibrosis (CF) experience variable lung disease phenotypes. The R117H mutation is often associated with preserved lung function. Our objective was to compare the rate of lung function decline in patients with the R117H mutation and patients homozygous for the F508del mutation.
Rate of decline in percentage-of-predicted FEV (ppFEV) was analyzed using the 2006-2010 US CF Foundation Patient Registry.
4-year rate of decline was slower in 156 R117H patients compared with 6251 F508del patients (-0.61 vs -2.03 ppFEV/year, P<0.001). Rates of decline in children were slower in R117H vs F508del patients (6-12-year-olds: +0.73 vs -1.91 ppFEV/year, P<0.001 and 13-17-year-olds: -1.55 vs -2.66 ppFEV/year, P=0.046), whereas rates in adults were not significantly different (18-24-year-olds: -1.52 vs -2.12, P=0.26 and ≥25-year-olds: -1.17 vs -1.40, P=0.33).
These findings are consistent with a delayed onset, but ultimately similar progression, of lung disease in R117H compared with homozygous F508del patients.
囊性纤维化（CF）患者的肺部疾病表型存在差异。R117H 突变通常与肺功能保留有关。我们的目的是比较 R117H 突变患者和纯合 F508del 突变患者的肺功能下降率。
使用 2006-2010 年美国 CF 基金会患者登记处分析预测的 FEV（ppFEV）百分比下降率。
与 6251 例 F508del 患者相比，156 例 R117H 患者的 4 年下降率较慢（-0.61 与-2.03 ppFEV/年，P<0.001）。R117H 患者的儿童下降率较 F508del 患者慢（6-12 岁：+0.73 与-1.91 ppFEV/年，P<0.001；13-17 岁：-1.55 与-2.66 ppFEV/年，P=0.046），而成年人的下降率则无显著差异（18-24 岁：-1.52 与-2.12，P=0.26；≥25 岁：-1.17 与-1.40，P=0.33）。
这些发现与 R117H 患者与纯合 F508del 患者相比，肺疾病的发病较晚但最终进展相似。
